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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 9-84002350-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=84002350&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 84002350,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024945.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "NM_001358291.2",
"protein_id": "NP_001345220.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445877.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001358291.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000445877.6",
"protein_id": "ENSP00000402433.2",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001358291.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445877.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "NM_001358292.2",
"protein_id": "NP_001345221.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001358292.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "NM_001358293.2",
"protein_id": "NP_001345222.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001358293.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "NM_001358294.2",
"protein_id": "NP_001345223.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001358294.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "NM_024945.3",
"protein_id": "NP_079221.2",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024945.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000325875.7",
"protein_id": "ENSP00000317039.3",
"transcript_support_level": 2,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325875.7"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000891301.1",
"protein_id": "ENSP00000561360.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891301.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000891302.1",
"protein_id": "ENSP00000561361.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891302.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000891303.1",
"protein_id": "ENSP00000561362.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891303.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000891304.1",
"protein_id": "ENSP00000561363.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891304.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000891305.1",
"protein_id": "ENSP00000561364.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891305.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915823.1",
"protein_id": "ENSP00000585882.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915823.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915824.1",
"protein_id": "ENSP00000585883.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915824.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915825.1",
"protein_id": "ENSP00000585884.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915825.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915826.1",
"protein_id": "ENSP00000585885.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915826.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915827.1",
"protein_id": "ENSP00000585886.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915827.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915828.1",
"protein_id": "ENSP00000585887.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915828.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915829.1",
"protein_id": "ENSP00000585888.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915829.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915830.1",
"protein_id": "ENSP00000585889.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915830.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915831.1",
"protein_id": "ENSP00000585890.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915831.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.1364A>T",
"hgvs_p": "p.Asn455Ile",
"transcript": "ENST00000915832.1",
"protein_id": "ENSP00000585891.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 625,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}